ACBD3
Acbd3: The Emerging Role in Human Health and Disease
Description
Acbd3, also known as acyl-CoA binding domain containing 3, is a protein that plays a crucial role in various biological processes. It is primarily involved in the metabolism of fatty acids and has been implicated in several human diseases.
Associated Diseases
Mutations in the ACBD3 gene have been linked to the following diseases:
- Hypertrophic cardiomyopathy (HCM): A condition characterized by excessive thickening of the heart muscle, leading to heart failure.
- Long-chain fatty acid oxidation disorders (LCFAODs): A group of metabolic disorders that result in an inability to properly break down long-chain fatty acids.
- Inflammatory bowel disease (IBD): A chronic condition that causes inflammation in the digestive tract.
- Cancer: ACBD3 has been found to play a role in the development and progression of certain types of cancer, including breast cancer, lung cancer, and colon cancer.
Did you Know ?
- Mutations in the ACBD3 gene are estimated to occur in approximately 1 in every 500 individuals.